prikaz prve stranice dokumenta Report on mutation in exon 15 of the APC gene in a case of brain metastasis
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Scientific paper - Original scientific paper
Report on mutation in exon 15 of the APC gene in a case of brain metastasis
Journal of Neuro-Oncology, 97 (2010), 1; 143-148. https://doi.org/10.1007/s11060-009-0001-7
Pećina-Šlaus, Nives; Majić, Željka; Musani, Vesna; Zeljko, Martina; Čupić, Hrvoje

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Pećina Šlaus, N., Majić, Ž., Musani, V., Zeljko, M. & Čupić, H. (2010). Report on mutation in exon 15 of the APC gene in a case of brain metastasis. Journal of Neuro-Oncology, 97. (1), 143-148. doi: 10.1007/s11060-009-0001-7

Pećina Šlaus, Nives, et al. "Report on mutation in exon 15 of the APC gene in a case of brain metastasis." Journal of Neuro-Oncology, vol. 97, no. 1, 2010, pp. 143-148. https://doi.org/10.1007/s11060-009-0001-7

Pećina Šlaus, Nives, Željka Majić, Vesna Musani, Martina Zeljko and Hrvoje Čupić. "Report on mutation in exon 15 of the APC gene in a case of brain metastasis." Journal of Neuro-Oncology 97, no. 1 (2010): 143-148. https://doi.org/10.1007/s11060-009-0001-7

Pećina Šlaus, N., et al. (2010) 'Report on mutation in exon 15 of the APC gene in a case of brain metastasis', Journal of Neuro-Oncology, 97(1), pp. 143-148. doi: 10.1007/s11060-009-0001-7

Pećina Šlaus N, Majić Ž, Musani V, Zeljko M, Čupić H. Report on mutation in exon 15 of the APC gene in a case of brain metastasis. Journal of Neuro-Oncology [Internet]. 2010 March [cited 2024 November 25];97(1):143-148. doi: 10.1007/s11060-009-0001-7

N. Pećina Šlaus, Ž. Majić, V. Musani, M. Zeljko and H. Čupić, "Report on mutation in exon 15 of the APC gene in a case of brain metastasis", Journal of Neuro-Oncology, vol. 97, no. 1, pp. 143-148, March 2010. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:835395. [Accessed: 25 November 2024]

Metadata
Title (english)Report on mutation in exon 15 of the APC gene in a case of brain metastasis
AuthorNives Pećina-Šlaus
AuthorŽeljka Majić
AuthorVesna Musani
AuthorMartina Zeljko
AuthorHrvoje Čupić
Author's institutionUniversity of Zagreb
School of Medicine
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Abstract (english)
The study analyzes exon 15 of the adenomatous polyposis coli gene (APC) in a 49-year-old male patient with brain metastasis. The primary site was lung carcinoma. PCR method and direct DNA sequencing of the metastasis and autologous lymphocyte samples identified the presence of a somatic mutation. The substitution was at position 5883 G-A in the metastasis tissue. The mutation was confirmed by RFLP analysis using Msp I endonuclease, since the mutation strikes the Msp I restriction site. Immunohistochemical analysis revealed the lack of protein expression of this tumor suppressor gene. The main molecular activator of the wnt pathway, beta-catenin, was expressed, and located in the nucleus. The mutation is a silent mutation that might have consequences in the creation of a new splice site. Different single-base substitutions in APC exons need not only be evaluated by the predicted change in amino acid sequence, but rather at the nucleotide level itself. In our opinion, such silent mutations should also be incorporated in mutation detection rate and validation.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionAccepted version
Journal titleJournal of Neuro-Oncology
Numberingvol. 97, no. 1, pp. 143-148
p-ISSN0167-594X
DOIhttps://doi.org/10.1007/s11060-009-0001-7
URN:NBNurn:nbn:hr:105:835395
Publication2010-03
Document URLhttps://doi.org/10.1007/s11060-009-0001-7
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2024-03-28 11:52:28